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Katta Mohan Girisha (K M Girisha, Katta M Girisha, Philippe M Campeau, Katta Girisha)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2015-2023
Publications (10 Years): 76

Top Venues

American journal of medical genetics. Part A

Clinical genetics

Journal of human genetics

European journal of human genetics : EJHG

Kasturba Medical College Manipal, Manipal Academy of Higher Education

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Kasturba Medical College Manipal, Manipal Academy of Higher Education Aug 25o 2008

India

Professor :: Medical Genetics

Publications

Sheila Unger, Carlos R Ferreira, Geert R Mortier, Houda Ali, Debora Romeo Bertola, Alistair Calder, Daniel H Cohn, Valerie Cormier-Daire, Katta Mohan Girisha, Christine Hall, Deborah Krakow, Outimaija Mäkitie, Stefan Mundlos, Gen Nishimura, Stephen P Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V Reid Sutton, Matthew L Warman, Andrea Superti-Furga
Nosology of genetic skeletal disorders: 2023 revision. American journal of medical genetics. Part A (2023)
Subrahmanya Vasishta, Akkatai S Teli, Akhila Vasudeva, Katta Mohan Girisha, Shalini S Nayak
Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7. Prenatal diagnosis (2023)
Prince Jacob, Hillevi Lindelöf, Cecilie F Rustad, Vernon Reid Sutton, Shahida Moosa, Prajna Udupa, Anna Hammarsjö, Gandham SriLakshmi Bhavani, Dominyka Batkovskyte, Kristian Tveten, Ashwin Dalal, Eva Horemuzova, Ann Nordgren, Emma Tham, Hitesh Shah, Else Merckoll, Laura Orellana, Gen Nishimura, Katta Mohan Girisha, Giedre Grigelioniene
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13. NPJ genomic medicine 8 (1) (2023)
Prince Jacob, Gandham SriLakshmi Bhavani, Prajna Udupa, Zheng Wang, Sankar V Hariharan, Kishan Delampady, Ashwin Dalal, Nutan Kamath, Shiro Ikegawa, Rathika D Shenoy, Koushik Handattu, Hitesh Shah, Katta Mohan Girisha
Exome Sequencing in Monogenic Forms of Rickets. Indian journal of pediatrics (2023)
Shruti Pande, Selinda Mascarenhas, Aishwarya Venkatraman, Vivekananda Bhat, Dhanya Lakshmi Narayanan, Shahyan Siddiqui, Stephanie L Bielas, Katta Mohan Girisha, Anju Shukla
Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy. American journal of medical genetics. Part A (2023)
Swati Singh, Prince Jacob, Siddaramappa Jagdish Patil, Mamta Muranjan, Hitesh Shah, Katta Mohan Girisha, Gandham Sri Lakshmi Bhavani
Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations. American journal of medical genetics. Part A (2023)
Subrahmanya Vasishta, Akkatai S Teli, Akhila Vasudeva, Katta Mohan Girisha, Shalini S Nayak
Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7. Prenatal diagnosis (2023)
Elizabeth Werren, Geneva LaForce, Anshika Srivast, Delia Perillo, Katherine Johnson, Brandon Berger, Samantha Regan, Christian Pfennig, Safa Baris, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raul Jimenez Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, Eloise Prijoles, Raymond Louie, Robert Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T Gordon, Kaan Boztug, Katta Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome. Research square (2023)
Almundher Al-Maawali, Fathiya Al-Murshedi, Amna Al-Futaisi, Ahmed Mansy, Asila Al-Habsi, Katta Mohan Girisha
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy. European journal of human genetics : EJHG (2023)
Debasish Kumar Ghosh, Shruti Pande, Jeevan Kumar, Dhanya Yesodharan, Sheela Nampoothiri, Periyasamy Radhakrishnan, Chilakala Gangi Reddy, Akash Ranjan, Katta Mohan Girisha
The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging. Aging cell 21 (11) (2022)
Chiara Klöckner, J Pedro Fernández-Murray, Mahtab Tavasoli, Heinrich Sticht, Gisela Stoltenburg-Didinger, Leila Motlagh Scholle, Somayeh Bakhtiari, Michael C Kruer, Hossein Darvish, Saghar Ghasemi Firouzabadi, Alex Pagnozzi, Anju Shukla, Katta Mohan Girisha, Dhanya Lakshmi Narayanan, Parneet Kaur, Reza Maroofian, Maha Saad Zaki, Mahmoud M Noureldeen, Andreas Merkenschlager, Janina Gburek-Augustat, Elisa Cali, Selina Banu, Kamrun Nahar, Stephanie Efthymiou, Henry Houlden, Rami Abou Jamra, Jason Williams, Christopher R McMaster, Konrad Platzer
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly. Brain : a journal of neurology 145 (6) (2022)
Tess Holling, Sheela Nampoothiri, Bedirhan Tarhan, Pauline E Schneeberger, Kollencheri Puthenveettil Vinayan, Dhanya Yesodharan, Arun Grace Roy, Periyasamy Radhakrishnan, Malik Alawi, Lindsay Rhodes, Katta Mohan Girisha, Peter B Kang, Kerstin Kutsche
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum. European journal of human genetics : EJHG 30 (4) (2022)
Mangalore S Shravya, Mary Mathew, Akhila Vasudeva, Katta Mohan Girisha, Shalini S Nayak
A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9. Clinical genetics (2022)
Shalini S Nayak, Robert Harkness, Anju Shukla, Siddharth Banka, William G Newman, Katta Mohan Girisha
Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence. American journal of medical genetics. Part A (2022)
Sheela Nampoothiri, Jeanne Maria Dsouza, Dhanya Yesodharan, Katta Mohan Girisha, Malini Eapen, Sajitha Sivasankaran Nair, Bhanu Vikraman Pillai, Periyasamy Radhakrishnan
A bi-allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies. Clinical genetics (2022)
Barbara Vona, D A Schwartzbaum, A A Rodriguez, S S Lewis, M B Toosi, P Radhakrishnan, Nazim Bozan, Ramazan Akın, M Doosti, R Manju, Duygu Duman, C J Sineni, Sheela Nampoothiri, E G Karimiani, Henry Houlden, Güney Bademci, Mustafa Tekin, Katta Mohan Girisha, Reza Maroofian, Sofia Douzgou
Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss. Journal of the European Academy of Dermatology and Venereology : JEADV 36 (9) (2022)
Benjamin D Solomon, Margaret P Adam, Chin-To Fong, Katta Mohan Girisha, Judith G Hall, Anna C E Hurst, Peter M Krawitz, Shahida Moosa, Shubha Rao Phadke, Cedrik Tekendo-Ngongang, Tara L Wenger
Perspectives on the future of dysmorphology. American journal of medical genetics. Part A (2022)
Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hülya Kayserili, Kimberly A Kripps, Shareef A Nahas, Eric P Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogné, Aida Maria Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis. Nature genetics 54 (8) (2022)
Kari A Mattison, Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M Butler, Alison Schreiber, Adnan Alsadah, Derek E Neilson, Karin Naess, Anna Wedell, Anna Wredenberg, Arthur Sorlin, Emma McCann, George J Burghel, Beatriz Menendez, George E Hoganson, Lorenzo D Botto, Francis M Filloux, Ángel Aledo-Serrano, Antonio Gil-Nagel, Katrina Tatton-Brown, Nienke E Verbeek, Michele van Hirtum-Das, Jeroen Breckpot, Trine Bjørg Hammer, Rikke S Møller, Andrea Whitney, Andrew G L Douglas, Mira Kharbanda, Nicola Brunetti-Pierri, Manuela Morleo, Vincenzo Nigro, Halie J May, James X Tao, Emanuela Argili, Elliot H Sherr, William B Dobyns, Genomics England Research Consortium, Richard A Baines, Jim Warwicker, J Alex Parker, Siddharth Banka, Katta Mohan Girisha, Philippe M Campeau
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy. Brain : a journal of neurology (2022)
Priyanka Upadhyai, Periyasamy Radhakrishnan, Vishal S Guleria, Neethukrishna Kausthubham, Shalini S Nayak, Andrea Superti-Furga, Katta Mohan Girisha
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A. Human mutation 42 (8) (2021)
Umut Altunoglu, Esra Börklü, Anju Shukla, Nathalie Escande-Beillard, Susanne Ledig, Hülya Azaklı, Shalini S Nayak, Serpil Eraslan, Katta Mohan Girisha, Ingo Kennerknecht, Hülya Kayserili
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis. Clinical genetics (2021)
Neethukrishna Kausthubham, Anju Shukla, Neerja Gupta, Gandham S Bhavani, Samarth Kulshrestha, Aneek Das Bhowmik, Amita Moirangthem, Sunita Bijarnia-Mahay, Madhulika Kabra, Ratna Dua Puri, Kausik Mandal, Ishwar C Verma, Stephanie L Bielas, Shubha R Phadke, Ashwin Dalal, Katta Mohan Girisha
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians. Human mutation 42 (4) (2021)
Prince Jacob, Gandham Sri Lakshmi Bhavani, Hitesh Shah, Chelna Galada, Sheela Nampoothiri, Nutan Kamath, Shubha Rao Phadke, Mamta Muranjan, Chaitanya A Datar, Anju Shukla, Katta Mohan Girisha
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients. American journal of medical genetics. Part A (2021)
Long Guo, Aritoshi Iida, Gandham SriLakshmi Bhavani, Kalpana Gowrishankar, Zheng Wang, Jing-Yi Xue, Juan Wang, Noriko Miyake, Naomichi Matsumoto, Takanori Hasegawa, Yusuke Iizuka, Masashi Matsuda, Tomoki Nakashima, Masaki Takechi, Sachiko Iseki, Shinsei Yambe, Gen Nishimura, Haruhiko Koseki, Chisa Shukunami, Katta Mohan Girisha, Shiro Ikegawa
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling. Nature communications 12 (1) (2021)
Taimoor I Sheikh, Nasim Vasli, Stephen Pastore, Kimia Kharizi, Ricardo Harripaul, Zohreh Fattahi, Shruti Pande, Farooq Naeem, Abrar Hussain, Asif Mir, Omar Islam, Katta Mohan Girisha, Muhammad Irfan, Muhammad Ayub, Christoph Schwarzer, Hossein Najmabadi, Anju Shukla, Valentina C Sladky, Vincent Zoran Braun, Irmina Garcia-Carpio, Andreas Villunger, John B Vincent
Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability. Translational psychiatry 11 (1) (2021)
Shruti Pande, Periyasamy Radhakrishnan, Naveenchandra M Shetty, Anju Shukla, Katta Mohan Girisha
Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome. American journal of medical genetics. Part A 185 (9) (2021)
Ajay Kumar Chaudhary, Aishwarya Gholse, Hampapathalu Adimurthy Nagarajaram, Ashwin Bhikaji Dalal, Neerja Gupta, Atanu Kumar Dutta, Sumita Danda, Rekha Gupta, Hariharan V Sankar, Gandham SriLakshmi Bhavani, Katta Mohan Girisha, Shubha Rao Phadke, Prajnya Ranganath, Murali Dharan Bashyam
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India. American journal of medical genetics. Part A (2021)
Purvi Majethia, Puneeth Hirivate Somashekar, Malavika Hebbar, Rajagopal Kadavigere, Balike Krishna Praveen, Katta Mohan Girisha, Anju Shukla
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia. Clinical genetics 100 (2) (2021)
Puneeth H Somashekar, Parneet Kaur, Joshi Stephen, Vishal Singh Guleria, Rajagopal Kadavigere, Katta Mohan Girisha, Stephanie Bielas, Priyanka Upadhyai, Anju Shukla
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. Clinical genetics 99 (4) (2021)
Sarah Verheyen, Jasmin Blatterer, Michael R Speicher, Gandham SriLakshmi Bhavani, Geert-Jan Boons, Mai-Britt Ilse, Dominik Andrae, Jens Sproß, Frédéric Maxime Vaz, Susanne G Kircher, Laura Posch-Pertl, Daniela Baumgartner, Torben Lübke, Hitesh Shah, Ali Al Kaissi, Katta Mohan Girisha, Barbara Plecko
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency. Journal of medical genetics 59 (10) (2021)
Dhanya Lakshmi Narayanan, Divya Udyawar, Parneet Kaur, Suvasini Sharma, Narayanaswamy Suresh, Sheela Nampoothiri, Michelle C do Rosario, Puneeth H Somashekar, Lakshmi Priya Rao, Neethukrishna Kausthubham, Purvi Majethia, Shruti Pande, Y Ramesh Bhat, Aroor Shrikiran, Stephanie Bielas, Katta Mohan Girisha, Anju Shukla
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling. European journal of human genetics : EJHG 29 (12) (2021)
Parneet Kaur, Michelle C do Rosario, Malavika Hebbar, Suvasini Sharma, Neethukrishna Kausthubham, Karthik Nair, Shrikiran A, Ramesh Bhat Y, Leslie Edward S Lewis, Sheela Nampoothiri, Siddaramappa Jagdish Patil, Narayanaswami Suresh, Sunita Bijarnia Mahay, Ratna Dua Puri, Shivanand Pai, Anupriya Kaur, Rakshith Kc, Nutan Kamath, Shruti Bajaj, Ali Kumble, Rajesh Shetty, Rathika Shenoy, Mahesh Kamate, Hitesh Shah, Mamta N Muranjan, Yatheesha Bl, K Shreedhara Avabratha, Girish Subramaniam, Rajagopal Kadavigere, Stephanie Bielas, Katta Mohan Girisha, Anju Shukla
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities. Clinical genetics 100 (5) (2021)
Purvi Majethia, Katta Mohan Girisha
Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A. American journal of medical genetics. Part A 185 (5) (2021)
Shruti Pande, Anju Shukla, Katta Mohan Girisha
Trichothiodystrophy type 4 in an Indian family. American journal of medical genetics. Part A 182 (10) (2020)
Pauline E Schneeberger, Shalini S Nayak, Sigrid Fuchs, Kerstin Kutsche, Katta Mohan Girisha
Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2. American journal of medical genetics. Part A 182 (11) (2020)
Anju Shukla, Parneet Kaur, Dhanya Lakshmi Narayanan, Michelle C do Rosario, Rajagopal Kadavigere, Katta Mohan Girisha
Genetic disorders with central nervous system white matter abnormalities: An update. Clinical genetics 99 (1) (2020)
Katta Mohan Girisha, Shruti Pande, Ashwin B Dalal, Shubha Rao Phadke
Untapped opportunities for rare disease gene discovery in India. American journal of medical genetics. Part A 182 (12) (2020)
Divya Pasumarthi, Neerja Gupta, Jayesh Sheth, S Jamal Md Nurul Jain, Ikrormi Rungsung, Madhulika Kabra, Prajnya Ranganath, Shagun Aggarwal, Shubha R Phadke, Katta Mohan Girisha, Anju Shukla, Chaitanya Datar, Ishwar C Verma, Ratna Dua Puri, Riddhi Bhavsar, Mehul Mistry, V H Sankar, Kalpana Gowrishankar, Divya Agrawal, Mohandas Nair, Sumita Danda, Jai Prakash Soni, Ashwin Dalal
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. Journal of human genetics 65 (11) (2020)
Siddaramappa Jagdish Patil, Gadabanahalli Ashok Karthik, Gandham SriLakshmi Bhavani, Venkatraman Bhat, Jyoti Matalia, Jhanvi Shah, Anju Shukla, Katta Mohan Girisha
Bosley-Salih-Alorainy syndrome in patients from India. American journal of medical genetics. Part A 182 (11) (2020)
Prince Jacob, Katta Mohan Girisha
Three M syndrome 2 in two Indian patients. American journal of medical genetics. Part A 185 (2) (2020)
Puneeth H Somashekar, Priyanka Upadhyai, Dhanya L Narayanan, Nutan Kamath, Shruti Bajaj, Katta Mohan Girisha, Anju Shukla
Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome. American journal of medical genetics. Part A 182 (12) (2020)
Leah Ke'ala'aumoe Dowsett, Antonio R Porras, Paul S Kruszka, Brandon Davis, Tommy Hu, Engela Honey, Eben Badoe, Meow-Keong Thong, Eyby Leon, Katta Mohan Girisha, Anju Shukla, Shalini S Nayak, Vorasuk Shotelersuk, Andre Megarbane, Shubha Rao Phadke, Nirmala D Sirisena, Vajira H W Dissanayake, Carlos R Ferreira, Monisha S Kisling, Pranoot Tanpaiboon, Annette Uwineza, Leon Mutesa, Cedrik Tekendo-Ngongang, Ambroise Wonkam, Karen Fieggen, Leticia Cassimiro Batista, Danilo Moretti-Ferreira, Roger E Stevenson, Eloise J Prijoles, David B Everman, Kate Clarkson, Jessica Worthington, Virginia E Kimonis, Fuki Hisama, Carol Crowe, Paul Wong, Kisha Johnson, Robin D Clark, Lynne Bird, Diane Masser-Frye, Marie McDonald, Patrick Willems, Elizabeth Roeder, Sulgana Saitta, Kwame Anyane-Yeoba, Laurie Demmer, Naoki Hamajima, Zornitza Stark, Greta Gillies, Louanne Hudgins, Usha Dave, Stavit Shalev, Victoria Siu, Ann Ades, Holly Dubbs, Sarah Raible, Maninder Kaur, Emanuela Salzano, Laird Jackson, Matthew Deardorff, Antonie D Kline, Marshall Summar, Maximilian Muenke, Marius George Linguraru, Ian D Krantz
Cornelia de Lange syndrome in diverse populations. American journal of medical genetics. Part A 179 (2) (2019)
Anju Shukla, Dhanya L Narayanan, Urja Asher, Katta Mohan Girisha
A novel bi-allelic loss-of-function variant in MYOD1: Further evidence for gene-disease association and phenotypic variability in MYOD1-related myopathy. Clinical genetics 96 (3) (2019)
Periyasamy Radhakrishnan, Shalini S Nayak, Anju Shukla, Anna Lindstrand, Katta Mohan Girisha
Meckel syndrome: Clinical and mutation profile in six fetuses. Clinical genetics 96 (6) (2019)
Periyasamy Radhakrishnan, Anju Shukla, Katta Mohan Girisha, Shalini S Nayak
Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence. American journal of medical genetics. Part A 182 (4) (2019)
Dhanya Lakshmi Narayanan, Anju Shukla, Neethukrishna Kausthubham, Gandham S Bhavani, Hitesh Shah, Geert Mortier, Katta Mohan Girisha
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. American journal of medical genetics. Part A 179 (9) (2019)
Parneet Kaur, Gandham SriLakshmi Bhavani, Arun Raj, Katta Mohan Girisha, Anju Shukla
Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders. Journal of human genetics 64 (12) (2019)
Anju Shukla, Russell P Saneto, Malavika Hebbar, Ghayda M Mirzaa, Katta Mohan Girisha
A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ. American journal of medical genetics. Part A 176 (5) (2019)
Puneeth H Somashekar, Dhanya Lakshmi Narayanan, Sujatha Jagadeesh, Beena Suresh, Reddy D Vaishnavi, Stephanie Bielas, Katta Mohan Girisha, Anju Shukla
Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. American journal of medical genetics. Part A 182 (1) (2019)
Katta Mohan Girisha, Gandham S Bhavani, Hitesh Shah, Amita Moirangthem, Anju Shukla, Ok-Hwa Kim, Gen Nishimura, Geert R Mortier
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. American journal of medical genetics. Part A 182 (2) (2019)
Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno, Hiroshi Suzumura, Bertrand Isidor, Winnie Peitee Ong, Muzhirah Haniffa, Susan M White, Mari Matsuo, Kayoko Saito, Shubha Phadke, Tomoki Kosho, Patrick Yap, Manisha Goyal, Lorne A Clarke, Rani Sachdev, George McGillivray, Richard J Leventer, Chirag Patel, Takanori Yamagata, Hitoshi Osaka, Yoshiya Hisaeda, Hirofumi Ohashi, Kenji Shimizu, Keisuke Nagasaki, Junpei Hamada, Sumito Dateki, Takashi Sato, Yasutsugu Chinen, Tomonari Awaya, Takeo Kato, Kougoro Iwanaga, Masahiko Kawai, Takashi Matsuoka, Yoshikazu Shimoji, Tiong Yang Tan, Seema Kapoor, Nerine Gregersen, Massimiliano Rossi, Mathieu Marie-Laure, Lesley McGregor, Kimihiko Oishi, Lakshmi Mehta, Greta Gillies, Paul J Lockhart, Kate Pope, Anju Shukla, Katta Mohan Girisha, Ghada M H Abdel-Salam, David Mowat, David Coman, Ok Hwa Kim, Marie-Pierre Cordier, Kate Gibson, Jeff Milunsky, Jan Liebelt, Helen Cox, Salima El Chehadeh, Annick Toutain, Ken Saida, Hiromi Aoi, Gaku Minase, Naomi Tsuchida, Kazuhiro Iwama, Yuri Uchiyama, Toshifumi Suzuki, Kohei Hamanaka, Yoshiteru Azuma, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Atsushi Takata, Satomi Mitsuhashi, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. Journal of human genetics 64 (12) (2019)
Paul S Kruszka, Antonio R Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D Gill, Alec P Boyle, Tommy Hu, Yonit A Addissie, Gary T K Mok, Cedrik Tekendo-Ngongang, Karen Fieggen, Eloise J Prijoles, Pranoot Tanpaiboon, Engela Honey, Ho-Ming Luk, Ivan F M Lo, Meow-Keong Thong, Premala Muthukumarasamy, Kelly L Jones, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta Mohan Girisha, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, Rupesh Mishra, Monisha S Kisling, Carlos R Ferreira, María Beatriz de Herreros, Ni-Chung Lee, Saumya S Jamuar, Angeline Lai, Ee Shien Tan, Jiin Ying Lim, Cham Breana Wen-Min, Neerja Gupta, Stephanie Lotz-Esquivel, Ramsés Badilla-Porras, Dalia Farouk Hussen, Mona O El Ruby, Engy A Ashaat, Siddaramappa Jagdish Patil, Leah Dowsett, Alison Eaton, A Micheil Innes, Vorasuk Shotelersuk, Ëben Badoe, Ambroise Wonkam, María Gabriela Obregon, Brian H Y Chung, Milana Trubnykova, Jorge La Serna, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca Barriga, Andre Megarbane, Beth A Kozel, Mieke M van Haelst, Roger E Stevenson, Marshall Summar, A Adebowale Adeyemo, Colleen A Morris, Danilo Moretti-Ferreira, Marius George Linguraru, Maximilian Muenke
Williams-Beuren syndrome in diverse populations. American journal of medical genetics. Part A 176 (5) (2019)
Anju Shukla, Katta Mohan Girisha, Puneeth H Somashekar, Sheela Nampoothiri, Rebecca McClellan, Hilary J Vernon
Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities. American journal of medical genetics. Part A 179 (5) (2019)
Katta Mohan Girisha, Ambroise Wonkam, Maximilian Muenke
Introducing in AJMG Part A: Case reports in diverse populations. American journal of medical genetics. Part A 176 (7) (2019)
Parneet Kaur, Kausthubham Neethukrishna, Ali Kumble, Katta Mohan Girisha, Anju Shukla
Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene. American journal of medical genetics. Part A 179 (5) (2019)
Paul S Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, Kelly L Jones, Sarah K Savage, Neerja Gupta, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, Teresa Aravena, Sheela Nampoothiri, Dhanya Yesodharan, Katta Mohan Girisha, Siddaramappa Jagdish Patil, Saumya Shekhar Jamuar, Jasmine Chew-Yin Goh, Agustini Utari, Nydia Sihombing, Rupesh Mishra, Neer Shoba Chitrakar, Brenda C Iriele, Ezana Lulseged, Andre Megarbane, Annette Uwineza, Elizabeth Eberechi Oyenusi, Oluwarotimi Bolaji Olopade, Olufemi Adetola Fasanmade, Milagros M Duenas-Roque, Meow-Keong Thong, Joanna Y L Tung, Gary T K Mok, Nicole Fleischer, Godfrey M Rwegerera, María Beatriz de Herreros, Johnathan Watts, Karen Fieggen, Victoria Huckstadt, Angélica Moresco, María Gabriela Obregon, Dalia Farouk Hussen, Neveen A Ashaat, Engy A Ashaat, Brian H Y Chung, Eben Badoe, Sultana M H Faradz, Mona O El Ruby, Vorasuk Shotelersuk, Ambroise Wonkam, Ekanem Nsikak Ekure, Shubha Rao Phadke, Antonio Richieri-Costa, Maximilian Muenke
Turner syndrome in diverse populations. American journal of medical genetics. Part A 182 (2) (2019)
Prince Jacob, Jai P Soni, Geert Mortier, Katta Mohan Girisha
The third family with Eiken syndrome. Clinical genetics 96 (4) (2019)
Katta Mohan Girisha, Leonie von Elsner, Kausthubham Neethukrishna, Mamta Muranjan, Anju Shukla, Gandham SriLakshmi Bhavani, Gen Nishimura, Kerstin Kutsche, Geert Mortier
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. Human mutation 40 (3) (2018)
Shalini S Nayak, Smrithi Salian, Anju Shukla, Mary Mathew, Katta Mohan Girisha
Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1. Congenital anomalies 57 (3) (2018)
Malavika Hebbar, Anju Shukla, Sheela Nampoothiri, Stephanie Bielas, Katta Mohan Girisha
Locus and allelic heterogeneity in five families with hereditary spastic paraplegia. Journal of human genetics 64 (1) (2018)
Puneeth H Somashekar, Katta Mohan Girisha, Sheela Nampoothiri, Kalpana Gowrishankar, Radha R Devi, Neerja Gupta, Dhanya L Narayanan, Anupriya Kaur, Shruti Bajaj, Sujatha Jagadeesh, Leslie E S Lewis, Shenoy Shailaja, Anju Shukla
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome. Clinical genetics 95 (3) (2018)
A Moirangthem, D L Narayanan, P Jacob, G Nishimura, G Mortier, Katta Mohan Girisha
Report of second case and clinical and molecular characterization of Eiken syndrome. Clinical genetics 94 (5) (2018)
Malavika Hebbar, Anil Kanthi, Anju Shukla, Stephanie Bielas, Katta Mohan Girisha
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome. Journal of human genetics 63 (8) (2018)
S Salian, A Shukla, H Shah, S N Bhat, V R Bhat, S Nampoothiri, R Shenoy, S R Phadke, S V Hariharan, Katta Mohan Girisha
Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB. Clinical genetics 94 (1) (2018)
Smrithi Salian, Sheela Nampoothiri, Anju Shukla, Katta Mohan Girisha
Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype. Congenital anomalies 59 (1) (2018)
Sylvia A Huisman, Paul A Mulder, Egbert Redeker, Ingrid Bader, Anne-Marie Bisgaard, Alice Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valerie Cormier-Daire, Matthew A Deardorff, Karin Diderich, Mariet Elting, Anthonie van Essen, David FitzPatrick, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Katta Mohan Girisha, Yvonne Hilhorst-Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Joanna F Moss, Sarah E Noon, Chris Oliver, Ilaria Parenti, Juan Pie, Feliciano J Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara L Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C Hennekam
Phenotypes and genotypes in individuals with SMC1A variants. American journal of medical genetics. Part A 173 (8) (2017)
Nathan Nakatsuka, Priya Moorjani, Niraj Rai, Biswanath Sarkar, Arti Tandon, Nick Patterson, Gandham SriLakshmi Bhavani, Katta Mohan Girisha, Mohammed S Mustak, Sudha Srinivasan, Amit Kaushik, Saadi Abdul Vahab, Sujatha M Jagadeesh, Kapaettu Satyamoorthy, Lalji Singh, David Reich, Kumarasamy Thangaraj
The promise of discovering population-specific disease-associated genes in South Asia. Nature genetics 49 (9) (2017)
S Kotabagi, H Shah, A Shukla, Katta Mohan Girisha
Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1. Clinical genetics 92 (3) (2017)
Anju Shukla, Malavika Hebbar, Katta Mohan Girisha
A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. Journal of human genetics 62 (9) (2017)
Neha Upadhyay, Muralidhar V Pai, Shalini S Nayak, Katta Mohan Girisha, Anju Shukla
Congenital omphalocele and cleft palate in two fetuses. Congenital anomalies 56 (4) (2017)
Chelna Galada, Hitesh Shah, Anju Shukla, Katta Mohan Girisha
A novel sequence variant in SFRP4 causing Pyle disease. Journal of human genetics 62 (5) (2017)
Anju Shukla, Aneek Das Bhowmik, Malavika Hebbar, Kadavigere V Rajagopal, Katta Mohan Girisha, Neerja Gupta, Ashwin Dalal
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis. Journal of human genetics 63 (1) (2017)
Katta Mohan Girisha, A Shukla, D Trujillano, G S Bhavani, M Hebbar, R Kadavigere, A Rolfs
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. Clinical genetics 90 (6) (2016)
A Uttarilli, P Ranganath, D Matta, J Md Nurul Jain, K Prasad, A S Babu, Katta Mohan Girisha, I C Verma, S R Phadke, Kausik Mandal, R D Puri, S Aggarwal, S Danda, V H Sankar, S Kapoor, M Bhat, K Gowrishankar, A Q Hasan, M Nair, S Nampoothiri, A Dalal
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. Clinical genetics 90 (6) (2016)
Shalini S Nayak, Anju Shukla, Leslie Lewis, Rajagopal Kadavigere, Mary Mathew, Prashanth K Adiga, Akhila Vasudeva, Pratap Kumar, Jyothi Shetty, Hitesh Shah, Katta Mohan Girisha
Clinical utility of fetal autopsy and its impact on genetic counseling. Prenatal diagnosis 35 (7) (2015)
Katta Mohan Girisha, Fanny Kortüm, Hitesh Shah, Malik Alawi, Ashwin Dalal, Gandham SriLakshmi Bhavani, Kerstin Kutsche
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. European journal of human genetics : EJHG 24 (8) (2015)

Katta Mohan Girisha.css-eqlu8i{font-size:small;padding-left:4px;} (K M Girisha, Katta M Girisha, Philippe M Campeau, Katta Girisha)

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Katta Mohan Girisha (K M Girisha, Katta M Girisha, Philippe M Campeau, Katta Girisha)